Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

Pediatr Neurol. 2020 Nov;112:94-100. doi: 10.1016/j.pediatrneurol.2020.04.006. Epub 2020 Apr 13.


Background: Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome.

Methods: We performed a retrospective review of 101 individuals with SATB2-associated syndrome who were reported to have had a previous electroencephalographic study to identify those who had at least one reported abnormal result. For completeness, a supplemental survey was distributed to the caregivers and input from the treating neurologist was obtained whenever possible.

Results: Forty-one subjects were identified as having at least one prior abnormal electroencephalography. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six subjects with definite clinical seizures needed polytherapy (35%). Delayed myelination and/or abnormal white matter hyperintensities were seen on neuroimaging in 19 individuals (61%).

Conclusions: Epileptiform abnormalities are commonly seen in individuals with SATB2-associated syndrome. A baseline electroencephalography that preferably includes sleep stages is recommended during the initial evaluation of all individuals with SATB2-associated syndrome, regardless of clinical suspicion of epilepsy.

Keywords: Electroencephalography; Epilepsy; Glass syndrome; SATB2; Seizure semiology.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • Child, Preschool
  • Electroencephalography
  • Epilepsy* / diagnosis
  • Epilepsy* / etiology
  • Epilepsy* / genetics
  • Epilepsy* / physiopathology
  • Female
  • Genetic Diseases, Inborn* / complications
  • Genetic Diseases, Inborn* / diagnosis
  • Genetic Diseases, Inborn* / genetics
  • Genetic Diseases, Inborn* / physiopathology
  • Humans
  • Infant
  • Male
  • Matrix Attachment Region Binding Proteins / genetics*
  • Nervous System Malformations* / diagnosis
  • Nervous System Malformations* / etiology
  • Nervous System Malformations* / genetics
  • Nervous System Malformations* / physiopathology
  • Retrospective Studies
  • Sleep Stages / physiology
  • Sleep Wake Disorders* / diagnosis
  • Sleep Wake Disorders* / etiology
  • Sleep Wake Disorders* / genetics
  • Sleep Wake Disorders* / physiopathology
  • Syndrome
  • Transcription Factors / genetics*
  • Young Adult


  • Matrix Attachment Region Binding Proteins
  • SATB2 protein, human
  • Transcription Factors